Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene .[ 5] [ 6]
GFPT1 Identifiers Aliases GFPT1 External IDs OMIM : 138292 ; MGI : 95698 ; HomoloGene : 68220 ; GeneCards : GFPT1 ; OMA :GFPT1 - orthologs Wikidata
Glutamine -fructose -6-phosphate transaminase 1 is the first and rate-limiting enzyme of the hexosamine pathway. GFAT controls the flux of glucose into the hexosamine pathway and catalyzes the formation of glucosamine 6-phosphate.[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000198380 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029992 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ McKnight GL, Mudri SL, Mathewes SL, Traxinger RR, Marshall S, Sheppard PO, O'Hara PJ (Jan 1993). "Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase" . J Biol Chem . 267 (35): 25208–12. doi :10.1016/S0021-9258(19)74026-5 PMID 1460020 . ^ a b "Entrez Gene: GFPT1 glutamine-fructose-6-phosphate transaminase 1" .
Schleicher ED, Weigert C (2001). "Role of the hexosamine biosynthetic pathway in diabetic nephropathy" . Kidney Int. Suppl . 77 : S13–8. doi :10.1046/j.1523-1755.2000.07703.x PMID 10997685 . Traxinger RR, Marshall S (1991). "Coordinated regulation of glutamine:fructose-6-phosphate amidotransferase activity by insulin, glucose, and glutamine. Role of hexosamine biosynthesis in enzyme regulation" . J. Biol. Chem . 266 (16): 10148–54. doi :10.1016/S0021-9258(18)99202-1 PMID 2037571 . Whitmore TE, Mudri SL, McKnight GL (1995). "Physical mapping of the human glutamine:fructose-6-phosphate amidotransferase gene (GFPT) to chromosome 2p13". Genomics . 26 (2): 422–3. doi :10.1016/0888-7543(95)80235-E . PMID 7601477 . Zhou J, Neidigh JL, Espinosa R, et al. (1995). "Human glutamine: fructose-6-phosphate amidotransferase: characterization of mRNA and chromosomal assignment to 2p13". Hum. Genet . 96 (1): 99–101. doi :10.1007/BF00214194 . PMID 7607664 . S2CID 25484995 . Sayeski PP, Paterson AJ, Kudlow JE (1994). "The murine glutamine:fructose-6-phosphate amidotransferase-encoding cDNA sequence". Gene . 140 (2): 289–90. doi :10.1016/0378-1119(94)90560-6 . PMID 8144040 . Nerlich AG, Sauer U, Kolm-Litty V, et al. (1998). "Expression of glutamine:fructose-6-phosphate amidotransferase in human tissues: evidence for high variability and distinct regulation in diabetes". Diabetes . 47 (2): 170–8. doi :10.2337/diabetes.47.2.170 . PMID 9519709 . Oki T, Yamazaki K, Kuromitsu J, et al. (1999). "cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse". Genomics . 57 (2): 227–34. doi :10.1006/geno.1999.5785 . PMID 10198162 . Chang Q, Su K, Baker JR, et al. (2000). "Phosphorylation of human glutamine:fructose-6-phosphate amidotransferase by cAMP-dependent protein kinase at serine 205 blocks the enzyme activity" . J. Biol. Chem . 275 (29): 21981–7. doi :10.1074/jbc.M001049200 PMID 10806197 . Niimi M, Ogawara T, Yamashita T, et al. (2001). "Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle" . J. Hum. Genet . 46 (10): 566–71. doi :10.1007/s100380170022 PMID 11587069 . DeHaven JE, Robinson KA, Nelson BA, Buse MG (2001). "A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle" . Diabetes . 50 (11): 2419–24. doi :10.2337/diabetes.50.11.2419 PMID 11679416 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Weigert C, Friess U, Brodbeck K, et al. (2004). "Glutamine:fructose-6-phosphate aminotransferase enzyme activity is necessary for the induction of TGF-beta1 and fibronectin expression in mesangial cells" . Diabetologia . 46 (6): 852–5. doi :10.1007/s00125-003-1122-8 PMID 12802498 . Ng DP, Walker WH, Chia KS, et al. (2004). "Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy" . Diabetes . 53 (3): 865–9. doi :10.2337/diabetes.53.3.865 PMID 14988277 . Elbein SC, Zheng H, Jia Y, et al. (2005). "Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy". Mol. Genet. Metab . 82 (4): 321–8. doi :10.1016/j.ymgme.2004.05.004 . PMID 15308130 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Chou KC (2005). "Molecular therapeutic target for type-2 diabetes". J. Proteome Res . 3 (6): 1284–8. doi :10.1021/pr049849v . PMID 15595739 . Weigert C, Thamer C, Brodbeck K, et al. (2005). "The -913 G/A glutamine:fructose-6-phosphate aminotransferase gene polymorphism is associated with measures of obesity and intramyocellular lipid content in nondiabetic subjects" . J. Clin. Endocrinol. Metab . 90 (3): 1639–43. doi :10.1210/jc.2004-0058 PMID 15613432 . Burt D, Brodbeck K, Häring HU, et al. (2005). "Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function" . Biochim. Biophys. Acta . 1740 (1): 85–90. doi :10.1016/j.bbadis.2005.01.007 PMID 15878746 .
